ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter)

dbSNP: rs2143591718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266593 SCV002548608 likely pathogenic Intellectual disability, autosomal dominant 56 2021-06-17 criteria provided, single submitter clinical testing The c.3239C>A (p.Ser1080Ter) variant identified in the CLTC gene is a nonsense variant leading to the premature termination of the protein at amino acid 1080/1676 (exon 20/32). This variant is absent from gnomAD(v3.1.1) suggesting it is not a common benign variant in the populations represented in that database.This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature, although several nonsense, frameshift, and canonical splice variants downstream of the one identified here have been reported [PMID:31776469]. Given it's deleterious nature and absence in population databases, the c.3239C>A (p.Ser1080Ter) variant identified in the CLTC gene is reported as Likely Pathogenic.

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